Product Details

SNP ID

rs3217778

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.4:121817155 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGTCTGGGGAATCTCTACTGTATCT[A/G]TCTCTGAATACTGTATTCAGATATG

Phenotype

MIM: 607590 MIM: 123835 MIM: 606180

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

BBS7 PubMed Links

Gene Details

Gene

BBS7

Gene Name

Bardet-Biedl syndrome 7

There are no transcripts associated with this gene.

Gene

CCNA2

Gene Name

cyclin A2

There are no transcripts associated with this gene.

Gene

EXOSC9

Gene Name

exosome component 9

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001034194.1		Intron			NP_001029366.1
NM_005033.2		Intron			NP_005024.2
XM_011532035.2		Intron			XP_011530337.1

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